Variant #0000002149 (NC_000023.10:g.133609323_133609324delAA, HPRT1(NM_000194.2):c.247_248delAA)

Individual ID 00002149
Chromosome X
Allele Unknown
Affects function (as reported) Not classified
Affects function (by curator) Not classified
DNA change (genomic) (Relative to hg19 / GRCh37) g.133609323_133609324delAA
Reference Jinnah HA1, De Gregorio L, Harris JC, Nyhan WL, O'Neill JP.(2000)
DB-ID HPRT1_000085
Frequency -
Average frequency (gnomAD v.2.1.1) Retrieve
Owner Y Yang
Database submission license Creative Commons Attribution-NonCommercial-ShareAlike 4.0 InternationalCreative Commons License
Created by Y Yang
Options




Variant on transcripts


Gene     

AscendingTranscript     

Affects function     

Exon     

DNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
HPRT1 NM_000194.2 ./. 3 c.247_248delAA r.(?) p.(Lys83Serfs*4) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel



Screenings


AscendingScreening ID     

Template     

Technique     

Genes screened     

Variants found     

Owner     
0000002149 ? ? HPRT1 1 Y Yang